Variant report

Variant	rs16963285
Chromosome Location	chr18:29963697-29963698
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29962611..29966946-chr18:30048395..30051891,4	MCF-7	breast:
2	chr18:29960482..29963119-chr18:29963659..29966463,2	MCF-7	breast:
3	chr18:29952934..29954642-chr18:29963321..29966112,2	MCF-7	breast:
4	chr18:29952322..29955283-chr18:29962192..29964133,2	K562	blood:

Variant related genes	Relation type
ENSG00000141441	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10468904	0.80[GIH][hapmap]
rs10502591	0.86[MEX][hapmap]
rs10502592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10502594	0.86[MEX][hapmap]
rs10502600	0.86[MEX][hapmap]
rs10853421	0.80[GIH][hapmap]
rs11081761	0.80[GIH][hapmap]
rs11665147	0.91[CEU][hapmap]
rs11665150	0.91[CEU][hapmap]
rs11665190	0.91[CEU][hapmap]
rs11876773	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380944	0.85[GIH][hapmap]
rs13381344	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs1458860	0.83[MKK][hapmap];0.83[YRI][hapmap]
rs1458865	0.80[GIH][hapmap]
rs16963275	0.83[YRI][hapmap]
rs16963287	0.86[GIH][hapmap]
rs16963289	0.91[CEU][hapmap]
rs16963314	0.86[MEX][hapmap]
rs16963353	0.86[MEX][hapmap]
rs16963381	0.89[GIH][hapmap]
rs16963382	0.86[MEX][hapmap]
rs17744051	0.80[GIH][hapmap]
rs1824304	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2034968	0.91[CEU][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs2055060	0.80[GIH][hapmap]
rs41527551	0.91[CEU][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs59456493	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616601	0.88[CHB][hapmap]
rs618004	0.88[CHB][hapmap]
rs625361	0.88[CHB][hapmap]
rs638142	0.88[CHB][hapmap]
rs6506968	0.80[GIH][hapmap]
rs656946	0.88[CHB][hapmap]
rs657479	0.88[CHB][hapmap]
rs668857	0.88[CHB][hapmap]
rs681347	0.88[CHB][hapmap]
rs7228553	0.80[GIH][hapmap]
rs7230250	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs7245123	0.80[GIH][hapmap]
rs7359734	0.80[GIH][hapmap]
rs736218	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73958410	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8083848	0.89[GIH][hapmap]
rs8097263	0.91[CEU][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs931494	0.83[YRI][hapmap]
rs968099	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29950000-29966200	Weak transcription	Fetal Brain Female	brain
2	chr18:29952800-29964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:29952800-29973200	Weak transcription	Fetal Stomach	stomach
4	chr18:29953000-29966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:29953400-29966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:29954000-29974000	Weak transcription	HSMMtube	muscle
7	chr18:29954200-29970800	Weak transcription	Fetal Intestine Large	intestine
8	chr18:29954200-29974400	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:29954400-29972600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:29954600-29974200	Weak transcription	Fetal Intestine Small	intestine
11	chr18:29955400-29965400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr18:29955800-29971000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr18:29958000-29965600	Weak transcription	Right Ventricle	heart
14	chr18:29958800-29965200	Weak transcription	Fetal Brain Male	brain
15	chr18:29959000-29966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:29959200-29964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr18:29959200-29972600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:29959200-29975400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr18:29960600-29966200	Enhancers	Stomach Mucosa	stomach
20	chr18:29960800-29969800	Weak transcription	Small Intestine	intestine
21	chr18:29961400-29964400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:29961400-29964400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:29961600-29964200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr18:29961600-29964200	Enhancers	NHEK	skin
25	chr18:29961800-29963800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:29961800-29964400	Enhancers	HMEC	breast
27	chr18:29962000-29963800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:29962000-29964200	Enhancers	Adipose Nuclei	Adipose
29	chr18:29962000-29965600	Enhancers	HUVEC	blood vessel
30	chr18:29962200-29963800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:29962200-29963800	Enhancers	NH-A	brain
32	chr18:29962200-29964000	Enhancers	HepG2	liver
33	chr18:29962200-29964400	Enhancers	Hela-S3	cervix
34	chr18:29962400-29964200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr18:29962600-29963800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:29962600-29964000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:29962800-29963800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr18:29962800-29965400	Weak transcription	Esophagus	oesophagus
39	chr18:29962800-29972800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:29962800-29972800	Weak transcription	Gastric	stomach
41	chr18:29962800-29974000	Weak transcription	Left Ventricle	heart
42	chr18:29963000-29963800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr18:29963000-29964200	Enhancers	NHDF-Ad	bronchial
44	chr18:29963000-29964800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr18:29963000-29967000	Enhancers	Fetal Heart	heart
46	chr18:29963200-29963800	Enhancers	HSMM	muscle
47	chr18:29963200-29966200	Weak transcription	Brain Substantia Nigra	brain
48	chr18:29963400-29965200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr18:29963400-29965400	Weak transcription	Brain Hippocampus Middle	brain
50	chr18:29963400-29966000	Weak transcription	Brain Anterior Caudate	brain

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